HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 204

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
GFRa-2 cis Discovery rs4443656 8:21,541,084 A/G 0.42 996 0.403 0.044 2.2×10-19 1.080 2.6×10-19 5.8×10-19
GFRa-2 cis Replication rs4443656 8:21,541,084 G/A 0.39 337 -0.318 0.058 7×10-8 -1.060 9.2×10-8 5.1×10-7

 

Regional association plots

GDNF family receptor alpha-2 (GFRa-2)

 

Boxplots and histograms for top associations

GDNF family receptor alpha-2 (GFRa-2)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

GDNF family receptor alpha-2 (GFRa-2)

Target (abbrv.) GFRa-2
Target (full name) GDNF family receptor alpha-2
Somalogic ID (Sequence ID) SL004143 (2515-14_3)
Entrez Gene Symbol GFRA2
UniProt ID O00451
UniProt Comment
  • Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.
Reactome
  • NCAM1 interactions

All locus annotations are based on the sentinel SNP (rs4443656) and 20 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • GFRA2 GDNF family receptor alpha 2
eQTL genes
  • GFRA2 GDNF family receptor alpha 2

 

Results from other genome-wide association studies

Trait P Study Source
cg20765100 (chr8:21495077) 5.5×10-10 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gly-PTC / PC ae C40:0 3.6×10-7 20037589 (PMID) GRASP2 metabQTL
Gly-PTC 5.3×10-5 20037589 (PMID) GRASP2 metabQTL
xanthine 5.9×10-5 24816252 (PMID) gwas.eu via SNiPA
Type 1 diabetes, combined control dataset, gender differentiated 3.1×10-4 17554300 (PMID) GRASP2 nonQTL
Fasting insulin, main effect, BMI adjusted 3.5×10-4 22581228 (PMID) Supplemental file